Canonical Allele Identifier: CA395954615

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385312C>T (hg19) ; chr16:g.56351400C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351400C>T , CM000678.2:g.56351400C>T	GRCh38
NC_000016.9:g.56385312C>T , CM000678.1:g.56385312C>T	GRCh37
NC_000016.8:g.54942813C>T	NCBI36
NG_042800.1:g.165062C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.740C>T MANE Select	ENSP00000262493.6:p.Ser247Phe
ENST00000562316.6:c.407C>T	ENSP00000457238.2:p.Ser136Phe
ENST00000564727.2:c.44C>T	ENSP00000454971.2:p.Ser15Phe
ENST00000568375.2:c.116-3466C>T
ENST00000638185.1:n.955C>T
ENST00000638210.1:n.1040C>T
ENST00000638705.1:c.740C>T	ENSP00000491223.1:p.Ser247Phe
ENST00000638836.1:n.650C>T
ENST00000639055.1:n.1461C>T
ENST00000639251.1:n.641C>T
ENST00000639268.1:c.375C>T
ENST00000639341.1:c.265C>T
ENST00000639770.1:c.778C>T	ENSP00000491999.1:n.778C>T
ENST00000640390.1:n.670C>T
ENST00000640469.1:c.104C>T	ENSP00000491875.1:p.Ser35Phe
ENST00000640560.1:n.516C>T
ENST00000640893.1:c.*138C>T	ENSP00000492677.1:n.*138C>T
ENST00000262493.10:c.740C>T	ENSP00000262493.6:p.Ser247Phe
ENST00000568375.1:n.116-3466C>T
NM_020988.2:c.740C>T	NP_066268.1:p.Ser247Phe
XM_011523003.1:c.614C>T	XP_011521305.1:p.Ser205Phe
XM_011523003.3:c.614C>T	XP_011521305.1:p.Ser205Phe
NM_020988.3:c.740C>T MANE Select	NP_066268.1:p.Ser247Phe